OBJECTIVES: Keratoconus (KC) is a progressive corneal ectasia disorder, arising from a myriad of causes including genetic predispositions, environmental factors, biomechanical influences, and inflammatory reactions. This study aims to identify potential pathogenetic gene mutations in patients with sporadic KC in the Han Chinese population. METHODS: Twenty-five patients with primary KC as well as 50 unrelated population-matched healthy controls, were included in this study to identify potential pathogenic gene mutations among sporadic KC patients in the Han Chinese population. Sanger sequencing and whole-exome sequencing (WES) were used to analyze mutations in the zinc finger protein 469 (ZNF469) gene. Bioinformatics analysis was conducted to explore the potential role of ZNF469 in KC pathogenesis. RESULTS: Five novel heterozygous missense variants were identified in KC patients. Among them, 2 compound heterozygous variants, c.8986G>C (p. E2996Q) with c.11765A>C (p. D3922A), and c.4423C>G (p. L1475V) with c.10633G>A (p. G3545R), were determined to be possible pathogenic factors for KC. CONCLUSIONS Mutations in the ZNF469 gene may contribute to the development of KC in the Han Chinese population. These mutation sites may provide valuable information for future genetic screening of KC patients and their families.
Adolescent ; Adult ; Female ; Humans ; Male ; Case-Control Studies ; China/ethnology* ; Exome Sequencing ; Genetic Predisposition to Disease ; Keratoconus/genetics* ; Mutation ; Mutation, Missense ; Transcription Factors/genetics* ; East Asian People/genetics*

Objective:To investigate the current situation of the use of transjugular intrahepatic portosystemic shunt (TIPS) for portal hypertension, which should aid the development of TIPS in China.Methods:The China Portal Hypertension Alliance (CHESS) initiated this study that comprehensively investigated the basic situation of TIPS for portal hypertension in China through network research. The survey included the following: the number of surgical cases, main indications, the development of Early-TIPS, TIPS for portal vein cavernous transformation, collateral circulation embolization, intraoperative portal pressure gradient measurement, commonly used stent types, conventional anticoagulation and time, postoperative follow-up, obstacles, and the application of domestic instruments.Results:According to the survey, a total of 13 527 TIPS operations were carried out in 545 hospitals participating in the survey in 2021, and 94.1% of the hospital had the habit of routine follow-up after TIPS. Most hospitals believed that the main indications of TIPS were the control of acute bleeding (42.6%) and the prevention of rebleeding (40.7%). 48.1% of the teams carried out early or priority TIPS, 53.0% of the teams carried out TIPS for the cavernous transformation of the portal vein, and 81.0% chose routine embolization of collateral circulation during operation. Most of them used coils and biological glue as embolic materials, and 78.5% of the team routinely performed intraoperative portal pressure gradient measurements. In selecting TIPS stents, 57.1% of the hospitals woulel choose Viator-specific stents, 57.2% woulel choose conventional anticoagulation after TIPS, and the duration of anticoagulation was between 3-6 months (55.4%). The limitation of TIPS surgery was mainly due to cost (72.3%) and insufficient understanding of doctors in related departments (77.4%). Most teams accepted the domestic instruments used in TIPS (92.7%).Conclusions:This survey shows that TIPS treatment is an essential part of treating portal hypertension in China. The total number of TIPS cases is far from that of patients with portal hypertension. In the future, it is still necessary to popularize TIPS technology and further standardize surgical indications, routine operations, and instrument application.

Objective:To explore vibration, position and motion proprioception of the ankle joints after a stroke.Methods:Twenty-eight stroke survivors with impaired ankle proprioception were divided into a right-side stroke group ( n=18) and a left-side stroke group ( n=8). Twenty-two healthy volunteers constituted a control group. Vibration perception thresholds, passive and active joint angle resetting, and motion minimum thresholds were quantified among the stroke survivors on both the healthy and the affected side. With the controls the dominant and non-dominant sides were used. The differences in proprioception between the healthy volunteers and the stroke patients, between the affected side and the healthy side of the stroke patients, and between left- and right-side stroke patients were analyzed and compared. Results:Among the stroke survivors the vibration perception threshold on the affected side averaged (28.91±22.53)μm. The absolute difference in the perception of passive positioning was (5.49±5.39)° for 15° of plantar flexion and (4.48±3.89)° for 5° of dorsal extension. In active positioning plantar flexion was (5.23±4.34)° and for 30° of plantar flexion it was (3.26±1.73)°. The 5° dorsal extension error was (4.97±3.48)°. The motion perception thresholds between 20° of plantar flexion, 10° of plantar flexion and the neutral position were significantly higher, on average, than among the control group. The stroke group also had significantly higher motion perception thresholds than the control group.Conclusion:The vibration, position, and motion sense of the ankle joint on a stroke survivor′s affected side tend to be impaired, with the impairment of vibration and motion sensing tend to be more substantial. After stroke, there is also mild impairment of vibration, position and motion sensing in the healthy ankle joint. The impairment of proprioception caused by right cerebral hemisphere injury may be more serious than that caused by injury on the left.

ObjectiveTo explore the features and assessment for far space neglect in left spatial neglect patients after right brain stroke. MethodsFrom January to October, 2021, 30 left unilateral spatial neglect (USN) patients after right stroke (patients, n = 30) from Beijing Bo'ai Hospital and healthy volunteers matching with gender, age and level of education (controls, n = 30) were evaluated with line cancelation (LC), star cancelation (SC) and line bisection (LB) tests, nearly and far away. The 25 controls were evaluated with LB on the second day. ResultsNo line or star was omissed in the controls. Both the deviation and percentage were more in the patients than in the controls (|t| > 4.319, P < 0.001). Both the deviation and percentage were less different for all the test (|Z| < 1.638, t = -1.282, P > 0.05) between nearly and far away, except the deviation of LB (t = -4.994, P < 0.001). The ICC of test-retest was above 0.462 (P < 0.01). ConclusionRight brain stroke patients with USN may present far spatial neglect, which can be assessed with LB.

【Objective】 To further determine the relationship between blood donor role cognition and blood donation behavior, then prepare of blood donor role identity scale(BDRIS). 【Methods】 The preparation of the scale was divided into five stages. It includes literature retrieval, expert interview, construction of the basic framework of the scale, scale test and statistical index test. The study focused on items selection, dimensions identification, measurement reliability, content and structural validity. 【Results】 The blood donor role identity scale consisted of 35 items. Exploratory factor analysis divided the items into six common factors, including role identity, role expectation, current situation of blood collection and supply, role conflict, external reward and blood donation experience. The α of scale was 0.840. 【Conclusion】 The reliability and validity of the scale meet the basic measurement requirements, and the framework of the blood donor role scale is basically formed. It can be used as one of the means to explore the ways and mechanisms of the role identity of blood donors in blood donation behavior.

Objective:To analyze the curative effect and prognostic factors for comprehensive therapy in patients with high-grade glioma.Methods:Patients with high-grade glioma (WHO grade Ⅲ,grade Ⅳ) were chosen from July 2008 to May 2016 in the Hunan Cancer Hospital,and a retrospective analysis was performed in 64 patients with complete follow-up data.Results:The follow-up time was 3-111 (median 29.5) months,the median overall survival time was 36.00 (95％ CI 22.85 to 49.16) months,the median progression-free survival time (PFS) was 21.00 (95％ CI 9.72 to 32.28) months,The 1-year,2-year,3-year and 5-year survival rates of high-grade glioma patients were 87.50％,56.25％,40.63％ and 17.19％,respectively.The univariate analysis of Log-Rank test and the Cox regression model analysis showed that the prognostic factors related to the prognosis of high-grade glioma patients were pathological grade,resection degree,and concurrent chemo-radiotherapy (P＜0.05).Conclusion:The overall survival time,progression-free survival time and the 5-year survival rate of patients with high-grade glioma after comprehensive treatment is partially improved.The factors relevant to the prognosis of patients with high-grade glioma are pathological grade,resection degree,and concurrent chemo-radiotherapy,indicating that the glioma patients (WHO grade Ⅲ) received total resection of the tumor and concurrent chemo-radiotherapy have better clinical effect.

Objective To evaluate the effects of low blood sugar production index (LGI) combined with low blood sugar production burden (LGL) dietary intervention on blood glucose, oxidative stress and anthropometric indicators in type 2 diabetes mellitus. Methods A total of 150 cases of type 2 diabetes were randomly divided into two groups,maintain the original treatment plan of two groups,75 patients in the control group were given traditional food interchange method for dietary intervention;the experimental group of 75 patients, provide food education based on LGI+LGI food exchange method , the time period of 3 months. Fasting blood glucose (FPG)、2h postprandial blood glucose (2hPG), Glycated hemoglobin (HbAlc), Superoxide dismutase (SOD), Malondialdehyde (MDA), Vitamin C, Vitamin E, Body Mass Index (BMI), Waist circumference (WC) Upper arm muscle circumference (AMC), Triceps skin fold thickness (TSF) were observed before and after the intervention. Results There were no significant differences in blood glucose, oxidative stress and anthropometry between the two groups (P>0.05). After intervention, in the control group: FPG, 2hPG, HbAlc, SOD, MDA, Vitamin C, Vitamin E, BMI, WC, AMC, TSF were (10.27 ± 2.67) mmol/L, (11.51 ± 2.54) mmol/L, (8.78 ± 1.95)%, (322.73 ± 51.97) kU/L, (5.80 ± 1.76)μmol/L, (40.78±4.86)μmol/L, (19.33±4.79)μmol/L, (23.94±3.18) kg/m2, (89.57±10.23) cm, (24.10± 3.01) cm, (18.38 ± 3.79)mm respectively. In the experimental group: they were (8.76 ± 2.77) mmol/L, (10.63 ± 1.76) mmol/L, (7.96 ± 1.86)%, (357.29 ± 60.04) kU/L, (5.26 ± 1.33)μmol/L, (44.01 ± 7.06)μmol/L, (21.58 ± 5.25) μmol/L, (22.93 ± 2.75) kg/m2, (86.05 ± 10.79) cm, (22.75 ± 2.86) cm, (16.98 ± 4.48) mm respectively. There was significant difference between the two groups after intervention (t=2.049-3.769, all P < 0.05). In the experimental group, the improvement of blood sugar, oxidative stress and anthropometry was better than that of the control group (P < 0.05). Conclusions LGI combined with LGL diet intervention is better than the traditional method of food interchange, the blood glucose, oxidative stress and anthropometric indicators have improved, which can improve treatment efficacy in type 2 diabetes and easy for home self-management.

Objective To explore the effects of CICARE communication model combined with WeChat health education on self-management capacity, focal absorption and indexes of glucose metabolism among patients with type 2 diabetes mellitus (T2DM) combined with pulmonary tuberculosis (PTB). Methods A total of 80 patients with T2DM combined with PTB at Chest Hospital of Xinjiang Uyghur Autonomous Region were selected by convenience sampling from 1st January 2016 to 31st December 2016. They were divided into control group (n=40) and observation group(n=40) with the method of the random number table. Patients in control group received conventional nursing and health education during hospitalization and at discharge. On the basis of control group, patients in observation group received nursing with the CICARE communication model along with health education by WeChat after discharge. The self-management capacity, focal absorption and effective rate, index of glucose metabolism of patients of both groups were compared six months after intervention.Results Before intervention, there were no statistically significant differences in self-management capacity and index of glucose metabolism (P> 0.05). Six months after intervention, the score of self-management capacity and effective rate of treatment in observation group was higher than those in control group. Besides, the fasting plasma glucose (FPG), 2-hour postprandial blood glucose (2hPG) and glycosylated hemoglobin in observation group were lower than those in control group with significant differences (P< 0.05). Conclusions The CICARE communication model combined with the communication and propagation function of WeChat can improve the self-management and clinical symptoms. Moreover, it has a synergistic action in improving treatment effects.